Prospective Follow-up of Patients With Glycogen Storage Disease Type III (PRO GSDIII)

Institut de Myologie, France

Status: Unknown

Conditions: Neuromuscular Disorders

Treatments: Procedure: Different motor function tests; Procedure: Manual dexterity assessment

Study type: Interventional

Funder types: Other

Identifiers

NCT01563705

2010-A00615-34

Details and patient eligibility

About

The aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients, and using the same protocol for the follow up of the children and adults.

Enrollment: 30 estimated patients

Sex: All

Ages: 10+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• patients with a debranching enzyme deficiency confirmed by enzymatic analysis (debranching enzyme deficiency).
• Written consent
• Age: at least 10 years
• Affiliated with a social security system

Exclusion criteria

• Pregnant and lactating women

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)